MRPL3 missense variants in ExAC

MRPL3 gene summary
MRPL3 variants in

The table below lists the MRPL3 missense variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 131188574 c.782T>C p.M261T missense 0.01523663●●●●●●
2. 131181683 c.931G>A p.G311S missense 0.00376978●●●●●●
3. 131220428 c.224G>A p.S75N missense 0.00160615●●●●●●
4. 131186967 c.862T>C p.S288P missense 0.00041339●●●●●●
5. 131181581 c.1033A>G p.I345V missense 0.00035548●●●●●●
6. 131220504 c.148G>T p.D50Y missense 0.00035421●●●●●●
7. 131208887 c.506G>T p.G169V missense 0.00024281●●●●●●
8. 131190061 c.692A>G p.H231R missense 0.00023938●●●●●●
9. 131181629 c.985C>T p.P329S missense 0.00019810●●●●●●
10. 131220419 c.233G>C p.C78S missense 0.00018122●●●●●●
11. 131206557 c.596G>A p.R199H missense 0.00011559●●●●●●
12. 131221583 c.83C>T p.P28L missense 0.00011006●●●●●●
13. 131217024 c.467G>A p.R156H missense 0.00010752●●●●●●
14. 131190065 c.688A>G p.T230A missense 0.00009905●●●●●●
15. 131219344 c.299T>C p.I100T missense 0.00008252●●●●●●
16. 131208881 c.512C>T p.P171L missense 0.00007538●●●●●●
17. 131217093 c.398C>T p.T133M missense 0.00007432●●●●●●
18. 131208896 c.497G>A p.R166Q missense 0.00006708●●●●●●
19. 131186966 c.863C>A p.S288Y missense 0.00006614●●●●●●
20. 131181605 c.1009G>A p.V337M missense 0.00006604●●●●●●
21. 131206542 c.611T>G p.V204G missense 0.00006603●●●●●●
22. 131181712 c.902A>G p.D301G missense 0.00005807●●●●●●
23. 131221632 c.34G>A p.A12T missense 0.00005194●●●●●●
24. 131208897 c.496C>T p.R166W missense 0.00005031●●●●●●
25. 131188550 c.806A>G p.Y269C missense 0.00004978●●●●●●
26. 131220550 c.102C>G p.I34M missense 0.00004964●●●●●●
27. 131220395 c.257C>T p.P86L missense 0.00004946●●●●●●
28. 131208878 c.515C>T p.P172L missense 0.00004189●●●●●●
29. 131217121 c.370G>A p.V124I missense 0.00004174●●●●●●
30. 131206558 c.595C>T p.R199C missense 0.00004128●●●●●●
31. 131219329 c.314G>A p.G105D missense 0.00004122●●●●●●
32. 131208852 c.541A>G p.I181V missense 0.00003412●●●●●●
33. 131188573 c.783G>A p.M261I missense 0.00003315●●●●●●
34. 131187005 c.824G>A p.R275K missense 0.00003310●●●●●●
35. 131217096 c.395A>G p.Y132C missense 0.00003303●●●●●●
36. 131217081 c.410A>G p.N137S missense 0.00003302●●●●●●
37. 131219293 c.350A>G p.H117R missense 0.00003297●●●●●●
38. 131188600 c.756G>T p.W252C missense 0.00002491●●●●●●
39. 131186948 c.881A>G p.N294S missense 0.00002482●●●●●●
40. 131181674 c.940C>A p.L314I missense 0.00002479●●●●●●
41. 131220546 c.106C>T p.L36F missense 0.00002478●●●●●●
42. 131206546 c.607T>C p.Y203H missense 0.00002477●●●●●●
43. 131181593 c.1021G>A p.G341S missense 0.00002477●●●●●●
44. 131206533 c.620C>T p.T207I missense 0.00002477●●●●●●
45. 131190064 c.689C>T p.T230M missense 0.00002476●●●●●●
46. 131221656 c.10T>G p.W4G missense 0.00001812●●●●●●
47. 131221656 c.10T>A p.W4R missense 0.00001812●●●●●●
48. 131208834 c.559A>G p.I187V missense 0.00001783●●●●●●
49. 131221605 c.61G>C p.G21R missense 0.00001694●●●●●●
50. 131221586 c.80G>C p.G27A missense 0.00001692●●●●●●
51. 131221593 c.73G>T p.A25S missense 0.00001691●●●●●●
52. 131188554 c.802G>C p.E268Q missense 0.00001659●●●●●●
53. 131188566 c.790A>T p.I264L missense 0.00001658●●●●●●
54. 131217024 c.467G>T p.R156L missense 0.00001654●●●●●●
55. 131217025 c.466C>T p.R156C missense 0.00001654●●●●●●
56. 131186978 c.851A>G p.Y284C missense 0.00001653●●●●●●
57. 131181676 c.938A>C p.N313T missense 0.00001653●●●●●●
58. 131217065 c.426G>A p.M142I missense 0.00001651●●●●●●
59. 131190054 c.699A>T p.Q233H missense 0.00001651●●●●●●
60. 131206563 c.590A>G p.H197R missense 0.00001651●●●●●●
61. 131190071 c.682C>T p.P228S missense 0.00001651●●●●●●
62. 131206540 c.613G>T p.D205Y missense 0.00001651●●●●●●
63. 131220531 c.121C>A p.L41I missense 0.00001650●●●●●●
64. 131220383 c.269G>C p.W90S missense 0.00001650●●●●●●
65. 131221661 c.5C>T p.P2L missense 0.00000926●●●●●●
66. 131221661 c.5C>G p.P2R missense 0.00000926●●●●●●
67. 131221659 c.7G>A p.G3S missense 0.00000915●●●●●●
68. 131208837 c.556G>A p.A186T missense 0.00000882●●●●●●
69. 131208839 c.554C>T p.A185V missense 0.00000876●●●●●●
70. 131208844 c.549T>G p.D183E missense 0.00000866●●●●●●
71. 131221574 c.92G>A p.R31K missense 0.00000851●●●●●●
72. 131221614 c.52C>T p.L18F missense 0.00000850●●●●●●
73. 131221606 c.60C>A p.D20E missense 0.00000848●●●●●●
74. 131221598 c.68G>C p.G23A missense 0.00000847●●●●●●
75. 131208912 c.481A>G p.I161V missense 0.00000845●●●●●●
76. 131208911 c.482T>C p.I161T missense 0.00000844●●●●●●
77. 131208899 c.494A>G p.Y165C missense 0.00000839●●●●●●
78. 131208900 c.493T>A p.Y165N missense 0.00000839●●●●●●
79. 131188617 c.739G>A p.D247N missense 0.00000833●●●●●●
80. 131220557 c.95C>T p.T32I missense 0.00000832●●●●●●
81. 131220558 c.94A>T p.T32S missense 0.00000832●●●●●●
82. 131181719 c.895G>A p.V299I missense 0.00000831●●●●●●
83. 131188544 c.812T>G p.L271R missense 0.00000831●●●●●●
84. 131188547 c.809G>A p.G270E missense 0.00000830●●●●●●
85. 131188572 c.784G>A p.G262R missense 0.00000829●●●●●●
86. 131188584 c.772C>A p.P258T missense 0.00000829●●●●●●
87. 131188557 c.799A>G p.T267A missense 0.00000829●●●●●●
88. 131188559 c.797G>A p.R266K missense 0.00000829●●●●●●
89. 131188592 c.764C>T p.T255I missense 0.00000829●●●●●●
90. 131181710 c.904T>A p.S302T missense 0.00000829●●●●●●
91. 131220553 c.99C>A p.H33Q missense 0.00000829●●●●●●
92. 131181701 c.913C>T p.P305S missense 0.00000828●●●●●●
93. 131186945 c.884G>C p.C295S missense 0.00000828●●●●●●
94. 131187001 c.828A>G p.I276M missense 0.00000827●●●●●●
95. 131186966 c.863C>G p.S288C missense 0.00000827●●●●●●
96. 131186983 c.846A>G p.I282M missense 0.00000827●●●●●●
97. 131190016 c.737G>T p.G246V missense 0.00000827●●●●●●
98. 131190019 c.734C>G p.T245S missense 0.00000827●●●●●●
99. 131186982 c.847A>G p.I283V missense 0.00000827●●●●●●
100. 131217031 c.460C>T p.R154C missense 0.00000827●●●●●●
101. 131181680 c.934A>C p.K312Q missense 0.00000827●●●●●●
102. 131181581 c.1033A>T p.I345F missense 0.00000827●●●●●●
103. 131190035 c.718C>T p.P240S missense 0.00000826●●●●●●
104. 131219350 c.293G>T p.G98V missense 0.00000826●●●●●●
105. 131181662 c.952A>G p.T318A missense 0.00000826●●●●●●
106. 131181589 c.1025C>G p.A342G missense 0.00000826●●●●●●
107. 131206525 c.628A>G p.T210A missense 0.00000826●●●●●●
108. 131217088 c.403A>G p.K135E missense 0.00000826●●●●●●
109. 131217054 c.437C>G p.S146C missense 0.00000826●●●●●●
110. 131181593 c.1021G>T p.G341C missense 0.00000826●●●●●●
111. 131181595 c.1019C>T p.P340L missense 0.00000826●●●●●●
112. 131190054 c.699A>C p.Q233H missense 0.00000826●●●●●●
113. 131217055 c.436T>C p.S146P missense 0.00000826●●●●●●
114. 131217093 c.398C>A p.T133K missense 0.00000826●●●●●●
115. 131190092 c.661A>G p.R221G missense 0.00000826●●●●●●
116. 131206558 c.595C>G p.R199G missense 0.00000826●●●●●●
117. 131219274 c.369G>C p.Q123H missense 0.00000825●●●●●●
118. 131219338 c.305T>G p.L102W missense 0.00000825●●●●●●
119. 131217066 c.425T>A p.M142K missense 0.00000825●●●●●●
120. 131217075 c.416A>G p.N139S missense 0.00000825●●●●●●
121. 131190085 c.668G>C p.G223A missense 0.00000825●●●●●●
122. 131181616 c.998A>G p.Y333C missense 0.00000825●●●●●●
123. 131220497 c.155A>G p.H52R missense 0.00000824●●●●●●
124. 131219327 c.316A>T p.M106L missense 0.00000824●●●●●●
125. 131220410 c.242A>G p.K81R missense 0.00000824●●●●●●
126. 131220470 c.182T>C p.I61T missense 0.00000824●●●●●●
127. 131220515 c.137G>C p.G46A missense 0.00000824●●●●●●
128. 131220431 c.221C>T p.A74V missense 0.00000824●●●●●●
129. 131219315 c.328T>C p.W110R missense 0.00000824●●●●●●
130. 131220395 c.257C>G p.P86R missense 0.00000824●●●●●●
131. 131220518 c.134G>A p.S45N missense 0.00000824●●●●●●
132. 131220481 c.171T>G p.N57K missense 0.00000824●●●●●●
133. 131219316 c.327A>T p.L109F missense 0.00000824●●●●●●
134. 131220404 c.248A>G p.E83G missense 0.00000824●●●●●●
135. 131220431 c.221C>G p.A74G missense 0.00000824●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.